Canonical Allele Identifier: CA557565116
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1199631146
gnomAD v2: 5-1411186-A-C
gnomAD v3: 5-1411071-A-C
gnomAD v4: 5-1411071-A-C
MyVariant Identifiers: chr5:g.1411186A>C (hg19) chr5:g.1411071A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411071A>C , CM000667.2:g.1411071A>C GRCh38
NC_000005.9:g.1411186A>C , CM000667.1:g.1411186A>C GRCh37
NC_000005.8:g.1464186A>C NCBI36
NG_015885.1:g.39358T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+172T>G MANE Select ENSP00000270349.9:n.1269+172T>G
ENST00000270349.11:c.1269+172T>G ENSP00000270349.9:n.1269+172T>G
NM_001044.4:c.1269+172T>G NP_001035.1:n.1269+172T>G
NM_001044.5:c.1269+172T>G MANE Select NP_001035.1:n.1269+172T>G
Search 100 bp 5'
Search 100 bp 3'